Fibrillin-1 gene analysis of Korean patients with spontaneous CSF hypovolemia.

Abstract

BACKGROUND:

Mutations in different domains of the Fibrillin-1 (FBN1) gene may be responsible for the variable phenotypic expression of Marfan's syndrome that may present with CSF hypovolemia.

OBJECTIVES:

To evaluate the association between mutations in the Fibrillin-1 (FBN1) gene and spontaneous CSF hypovolemia (SCH) in a Korean population.

METHODS:

We studied 10 consecutive patients with SCH without clinical characteristics of Marfan's syndrome. The genetic analysis was performed.

RESULTS:

Direct sequencing analysis of the FBN1 gene identified 15 genetic variations, of which 5 coding (3 synonymous, 2 nonsynonymous) and 8 intronic variations were listed in the single nucleotide polymorphism database (dbSNP). The other 2 variations, c.2728 - 12T > C in intron 21 and c.4582 - 19A > G in intron 35, were also observed in normal controls with estimated frequencies of 0.06 and 0.15, respectively.

CONCLUSIONS:

We could not identify any FBN1 variations possibly associated with SCH in our study population.

• Authors: Sun J Chung, Chang-Seok Ki, Myoung C Lee, Jae-Hong Lee
• Journal: Headache (Headache) Vol. 47 Issue 1 Pg. 111-5 (Jan 2007) ISSN: 0017-8748 [Print] United States
• PMID: 17355504 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• FBN1 protein, human
• Fibrillin-1
• Fibrillins
• Microfilament Proteins

Topics

• Adolescent
• Adult
• Asian People (genetics)
• Case-Control Studies
• Cerebrospinal Fluid (physiology)
• Cerebrospinal Fluid Pressure (genetics, physiology)
• Female
• Fibrillin-1
• Fibrillins
• Humans
• Intracranial Hypotension (genetics, physiopathology)
• Korea
• Male
• Marfan Syndrome (genetics)
• Microfilament Proteins (genetics)
• Middle Aged
• Mutation (genetics)
• Phenotype
• Polymorphism, Single Nucleotide (genetics)